CDCS was discovered in 1963 by a French geneticist called Jerome Lejaune. It is quite a rare syndrome, affecting around 1: 50,000 births. CDCS is characterised by a high-pitched cat-like cry that is present in newborns, although it almost always disappears with age.
Children with CDCS are usually developmentally-delayed, and will fall into either moderate or severe learning difficulties categories by the time they reach school-age. There is some evidence of a slightly different form of CDCS, which has similar physical features but does not cause learning difficulties. Physical features of CDCS include lowered ears, downward slanting eyes and only a single crease on the palms of the hands.
The most significant difficulties for children and adults with CDCS are speech and language, sleep disruption and behaviour.
- Speech & Language – expressive communication is delayed and does not fully develop in some CDCS children. In most children, verbal communication is usually quite good, however. They show good comprehension (which is significantly higher than their expressive capabilities would indicate), and usually adapt well to alternative methods, e.g. sign and symbol use.
- Sleep disruptions – a large number of children with CDCS show disrupted sleep patterns, usually waking repeatedly throughout the night.
- Behaviour – children with CDCS can show aggressive and disruptive behaviour, and hyperactivity. This may be linked to sleep problems.
Other commonly linked difficulties with CDCS include proneness to constipation and respiratory / ear infections; most CDCS children will have lower muscle tone than usual.
This
website gives a brief and clear overview of the syndrome, and also shows the development of Stephen from newborn to 20, through a diary kept by his mum.